Canonical Allele Identifier: CA2169098
Gene: TIGD1 HGNC NCBI
CHRNG HGNC NCBI

Linked Data

dbSNP Id: rs777981583
ExAC: 2:233410463 AC / A
MyVariant Identifiers: chr2:g.233410464del (hg19) chr2:g.232545754del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232545754del , CM000664.2:g.232545754del GRCh38
NC_000002.11:g.233410464del , CM000664.1:g.233410464del GRCh37
NC_000002.10:g.233118708del NCBI36
NG_012954.1:g.11028del
NG_012954.2:g.11063del

Transcript Alleles

HGVS Amino-acid Change
ENST00000408957.7:c.*2353del (TIGD1) MANE Select ENSP00000386186.3:n.*2353del
ENST00000651502.1:c.*38del (CHRNG) MANE Select ENSP00000498757.1:n.*38del
ENST00000389494.7:c.*38del (CHRNG) ENSP00000374145.3:n.*38del
NM_005199.4:c.*38del (CHRNG) NP_005190.4:n.*38del
NM_005199.5:c.*38del (CHRNG) MANE Select NP_005190.4:n.*38del
NM_145702.4:c.*2353del (TIGD1) MANE Select NP_663748.1:n.*2353del
Search 100 bp 5'
Search 100 bp 3'